Linked Data
dbSNP Id:
rs781625336
ExAC:
7:30671015 AT / A
gnomAD v2:
7-30671015-AT-A
gnomAD v4:
7-30631399-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30631400del , CM000669.2:g.30631400del | GRCh38 |
| NC_000007.13:g.30671016del , CM000669.1:g.30671016del | GRCh37 |
| NC_000007.12:g.30637541del | NCBI36 |
| NG_007942.1:g.41836del , LRG_243:g.41836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1810-48del MANE Select | ENSP00000373918.3:n.1810-48del | |
| ENST00000444666.6:c.*231-48del | ENSP00000415447.2:n.*231-48del | |
| ENST00000465748.2:n.1291-48del | ||
| ENST00000470392.2:n.4630del | ||
| ENST00000485784.2:n.4619del | ||
| ENST00000496643.2:n.2857del | ||
| ENST00000674616.1:c.*1524-48del | ENSP00000502408.1:n.*1524-48del | |
| ENST00000674643.1:c.*910-48del | ENSP00000501636.1:n.*910-48del | |
| ENST00000674737.1:c.*1148-48del | ENSP00000502464.1:n.*1148-48del | |
| ENST00000674807.1:c.*83-48del | ENSP00000502814.1:n.*83-48del | |
| ENST00000674815.1:c.1441-48del | ENSP00000502799.1:n.1441-48del | |
| ENST00000674851.1:c.1441-48del | ENSP00000502451.1:n.1441-48del | |
| ENST00000674969.1:n.3683-48del | ||
| ENST00000675051.1:c.1609-48del | ENSP00000502296.1:n.1609-48del | |
| ENST00000675529.1:c.*1680-48del | ENSP00000501655.1:n.*1680-48del | |
| ENST00000675587.1:n.2642-48del | ||
| ENST00000675651.1:c.1810-48del | ENSP00000502513.1:n.1810-48del | |
| ENST00000675693.1:c.1642-48del | ENSP00000502174.1:n.1642-48del | |
| ENST00000675810.1:c.1708-48del | ENSP00000502743.1:n.1708-48del | |
| ENST00000675859.1:c.*83-847del | ENSP00000502033.1:n.*83-847del | |
| ENST00000675863.1:n.1818-48del | ||
| ENST00000675886.1:n.7850-48del | ||
| ENST00000676088.1:c.*1752-48del | ENSP00000501884.1:n.*1752-48del | |
| ENST00000676140.1:c.*755-48del | ENSP00000502571.1:n.*755-48del | |
| ENST00000676164.1:c.*1261-48del | ENSP00000501986.1:n.*1261-48del | |
| ENST00000676210.1:c.*1099-48del | ENSP00000502373.1:n.*1099-48del | |
| ENST00000676259.1:c.*1242-48del | ENSP00000501980.1:n.*1242-48del | |
| ENST00000676403.1:c.1810-847del | ENSP00000502681.1:n.1810-847del | |
| ENST00000389266.7:c.1810-48del | ENSP00000373918.3:n.1810-48del | |
| ENST00000444666.5:c.465-48del | ENSP00000415447.1:n.465-48del | |
| ENST00000465748.1:n.181-48del | ||
| ENST00000485784.1:n.252del | ||
| NM_001316772.1:c.1648-48del | NP_001303701.1:n.1648-48del | |
| NM_002047.2:c.1810-48del , LRG_243t1:c.1810-48del | NP_002038.2:n.1810-48del | |
| NM_002047.3:c.1810-48del | NP_002038.2:n.1810-48del | |
| XM_006715686.1:c.1441-48del | XP_006715749.1:n.1441-48del | |
| XM_006715686.2:c.1441-48del | XP_006715749.1:n.1441-48del | |
| NM_002047.4:c.1810-48del MANE Select | NP_002038.2:n.1810-48del |